GFAP and its role in Alexander disease

被引：149

作者：

Quinlan, Roy A. ^{[1
]}

Brenner, Michael

Goldman, James E.

Messing, Albee

机构：

[1] Univ Durham, Sch Biol & Biomed Sci, Durham DH1 3LE, England

[2] Univ Alabama Birmingham, Ctr Glial Biol Med, Evelyn F McKnight Brain Inst, Dept Neurobiol, Birmingham, AL 35294 USA

[3] Columbia Univ, Ctr Neurobiol & Behav, Dept Pathol, New York, NY 10032 USA

[4] Univ Wisconsin, Waisman Ctr, Dept Comparat Biosci, Madison, WI 53705 USA

来源：

EXPERIMENTAL CELL RESEARCH | 2007年 / 313卷 / 10期

基金：

美国国家卫生研究院;

关键词：

Alexander disease; inclusions; Rosenthal fiber; GFAP; delta GFAP; kappa GFAP; chaperone; alpha B-crystallin; HSP27; SAPK; Jnk; MLK;

D O I：

10.1016/j.yexcr.2007.04.004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Here we review how GFAP mutations cause Alexander disease. The current data suggest that a combination of events cause the disease. These include: (i) the accumulation of GFAP and the formation of characteristic aggregates, called Rosenthal fibers, (ii) the sequestration of the protein chaperones alpha B-crystallin and HSP27 into Rosenthal fibers, and (iii) the activation of both Jnk and the stress response. These then set in motion events that lead to Alexander disease. We discuss parallels with other intermediate filament diseases and assess potential therapies as part of this review as well as emerging trends in disease diagnosis and other aspects concerning GFAP. (c) 2007 Elsevier Inc. All rights reserved.

引用

页码：2077 / 2087

页数：11

共 84 条

[1] PROGRESSIVE FIBRINOID DEGENERATION OF FIBRILLARY ASTROCYTES ASSOCIATED WITH MENTAL RETARDATION IN A HYDROCEPHALIC INFANT [J].

ALEXANDER, WS .

BRAIN, 1949, 72 (03) :373-&

[2] Aspirin-induced blockade of NF-κB activity restrains up-regulation of glial fibrillary acidic protein in human astroglial cells [J].

Bae, Moon-Kyoung ;

Kim, Su-Ryun ;

Lee, Hak-Joong ;

Wee, Hee-Jun ;

Yoo, Mi-Ae ;

Oh, Sae Ock ;

Baek, Sun-Yong ;

Kim, Bong-Seon ;

Kim, Jae-Bong ;

Sik-Yoon ;

Bae, Soo-Kyung .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2006, 1763 (03) :282-289

[3] STRUCTURE OF THE MOUSE GLIAL FIBRILLARY ACIDIC PROTEIN GENE - IMPLICATIONS FOR THE EVOLUTION OF THE INTERMEDIATE FILAMENT MULTIGENE FAMILY [J].

BALCAREK, JM ;

COWAN, NJ .

NUCLEIC ACIDS RESEARCH, 1985, 13 (15) :5527-5543

[4] Alexander disease - Not just a leukodystrophy anymore [J].

Barkovich, AJ ;

Messing, A .

NEUROLOGY, 2006, 66 (04) :468-469

[5] Identification and characterization of GFAPκ a novel glial fibrillary acidic protein isoform [J].

Blechingberg, Jenny ;

Holm, Ida Elisabeth ;

Nielsen, Karsten Bork ;

Jensen, Torben Heick ;

Jorgensen, Arne Lund ;

Nielsen, Anders Lade .

GLIA, 2007, 55 (05) :497-507

[6] Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease [J].

Brenner, M ;

Johnson, AB ;

Boespflug-Tanguy, O ;

Rodriguez, D ;

Goldman, JE ;

Messing, A .

NATURE GENETICS, 2001, 27 (01) :117-120

[7] CHARACTERIZATION OF HUMAN CDNA AND GENOMIC CLONES FOR GLIAL FIBRILLARY ACIDIC PROTEIN [J].

BRENNER, M ;

LAMPEL, K ;

NAKATANI, Y ;

MILL, J ;

BANNER, C ;

MEAROW, K ;

DOHADWALA, M ;

LIPSKY, R ;

FREESE, E .

MOLECULAR BRAIN RESEARCH, 1990, 7 (04) :277-286

[8] Early mitochondrial dysfunction in an infant with Alexander disease [J].

Caceres-Marzal, Cristina ;

Vaquerizo, Julian ;

Galan, Enrique ;

Fernandez, Santiago .

PEDIATRIC NEUROLOGY, 2006, 35 (04) :293-296

[9]

Condorelli DF, 1999, J NEUROSCI RES, V56, P219, DOI 10.1002/(SICI)1097-4547(19990501)56:3<219::AID-JNR1>3.3.CO

[10]

2-U

← 1 2 3 4 5 6 7 8 9 →